PHG Foundation is a policy think tank with a focus on health care and genomics. We look atpolicy and technical challenges that are likely to arise through the combination of biomedicalinnovation and personalisation of healthcare.In our work, we use critical appraisal of the available evidence and wider policy developments toanalyse and make recommendations on a wide range of topics related to genomics and publichealth. We stay abreast of current innovations and use this expertise to consider theimplications for healthcare and develop policy recommendations.Key projects:• PHG Foundation has an established programme of work for polygenic scores (PGS). We arebringing together our expertise in test evaluation frameworks in order to better assess thepotential utility of PGS in healthcare. I have been involved in work evaluating clinical validity ofPGS, particularly elements related to analytical validity and test development.• Policy briefings: I developed a pair of policy briefings commissioned by the Wyng Foundationexploring ‘what is clinical long read sequencing’, potential applications in rare disease andcancer, and considerations for implementation.• Innovations for health: In this horizon scanning work, I explored the role of host genomics inresponse to infectious disease and vaccinomics. This work has been taken forward and wehave a current project exploring the potential impact of host genomics for healthcare• Clinical and pathogen genomics: I have been involved in funded projects from FIND and HAIevaluating the role of sequencing or diagnostics for antimicrobial resistance and pathogenidentification in different settings.

Novacyt is an Anglo-French biotechnology group focused on clinical diagnostics. I workedin the newly established clinical trials unit to build their evidence portfolio for COVID-19diagnostics. This work involved:• Supporting a clinical trial of same-day reporting of COVID-19 RT-qPCR testing in Eastof London Care homes from establishment to recruitment• Acted as liaison with the clinical trials unit and managing aspects related to data• Supporting further studies in healthcare and community settingsIn December 2020, I pivoted to support R&D and marketing departments in response tothe COVID-19 variants and changes to COVID-19 PCR test requirements. I used mygenomics background to provide prompt updates to allow prompt response given thechanging evidence landscape in terms of science and epidemiology.

I supported the reporting of primary results for the Cancer-arm of the 100,000 GenomeProject to achieve the National deadline. This work had multiple elements to consider,including establishment of WGS clinical pathways for paediatric and haematologicalcancers, reporting hereditary and pharmacogenomics (DPYD only) where relevant, andreport all primary findings.My work was primarily supporting this final package of work. There was cautionreturning all results provided by Genomics England (inclusive of SNVs, indels, CNVs andstructural variants) and given the short deadline, a pragmatic approach was needed toidentify meaningful results to return. We used a bioinformatics-led approach to identifyvariants for reporting. Additionally, we performed a more detailed analysis of NTRKfusion events, identifying cases for further testing to assess eligibility for approvedtargeted therapies.

This Master’s is designed to educate NHS healthcare professionals across multi-professional teamsin genomic technologies and the use of genomics in diagnostic and treatment pathways. I wastaught alongside medical professionals providing insights into both the technical content and howgenomic medicine is changing healthcare services in the UK.Specialist modules included bioinformatics, genomic counselling, epigenetics, genomics ofcommon and rare disease, and pharmacogenomicsDissertation: Trio-based exome sequencing in the study of imprinting defects in growthabnormalitiesImprinting disorders are characterised by growth abnormalities. In the DecipheringDevelopmental Disorders study cohort, patients with growth abnormalities were selected. Usinga combination of bioinformatic approaches, I interrogated mechanisms that could lead to direct(imprinted regions) or indirect (maternal effect genes) disruption of these imprinted loci.

This degree provided the foundation to understand how science underpins medicine and clinicalpractice across a broad range of disease areas. Specialising in human genomics, I studied specialistmodules in molecular genetics, medical genetics, genomics, and pharmacogenomics.I applied this learning in a systematic review and thematic analysis to understand broad conceptsin genomic science, impact on penetrance estimates, and relevance to translation of genomicmedicine from high risk to the general population.I undertook a systematic review to evaluate the evidence base for family based penetrance in current genomics research. I used thematic analysis to synthesise findings to reach conclusions. These findings have been published in the European Journal of Human Genetics.